title: Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency.
abstract: OBJECTIVE
  To evaluate the automated determination of total cerebrospinal fluid (CSF) folates for the diagnosis of cerebral folate deficiency.
  
  
  METHODS
  CSF and serum samples were analyzed in 60 children with different neurological disorders.
  
  
  RESULTS
  In all patients with genetic conditions leading to profound cerebral folate deficiency (impaired folate transport and metabolism), the automated folate determination showed altered values.
  
  
  CONCLUSIONS
  CSF folate quantification provided profound CSF folate deficiency diagnosis caused either by folate transport or metabolism deficiencies.
authors.affiliation: Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazábal
authors.forename: Belén
authors.initials: B
authors.lastname: Perez-Dueñas
authors.forename: Cristina
authors.initials: C
authors.lastname: Sierra
authors.forename: Roser
authors.initials: R
authors.lastname: Urreitzi
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
authors.forename: Mercedes
authors.initials: M
authors.lastname: Serrano
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: Mercé
authors.initials: M
authors.lastname: Pineda
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005492:Folic Acid / Q000097:blood* / Q000134:cerebrospinal fluid*; D005494:Folic Acid Deficiency / Q000134:cerebrospinal fluid* / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009422:Nervous System Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis; D055815:Young Adult
chemical_list: D005492:Folic Acid